Variant report

Variant	rs2595552
Chromosome Location	chr19:37485722-37485723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10401417	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10404981	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10405238	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407712	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10408534	0.87[ASN][1000 genomes]
rs10409206	0.83[ASN][1000 genomes]
rs10410594	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10411037	0.83[EUR][1000 genomes]
rs10411251	0.94[ASN][1000 genomes]
rs10412863	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10416960	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10419845	0.83[EUR][1000 genomes]
rs10420859	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10424100	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12710052	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12977971	0.96[ASN][1000 genomes]
rs12981965	0.86[ASN][1000 genomes]
rs13345489	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1551025	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1617883	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1623097	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1624293	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628959	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1644664	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1644701	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1644702	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1644704	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1667357	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667359	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971850	0.96[ASN][1000 genomes]
rs17639910	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17707101	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28495495	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28542490	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28555503	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28608841	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28655720	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34791663	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35881914	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3816390	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3816391	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806377	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4806386	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62109879	0.83[EUR][1000 genomes]
rs62113193	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62115615	0.82[ASN][1000 genomes]
rs6510572	0.96[ASN][1000 genomes]
rs71266562	0.91[ASN][1000 genomes]
rs71356024	0.94[ASN][1000 genomes]
rs7249013	0.84[ASN][1000 genomes]
rs7250498	0.91[ASN][1000 genomes]
rs7251087	0.96[ASN][1000 genomes]
rs7252797	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112709	0.87[EUR][1000 genomes]
rs997516	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
2	chr19:37468800-37487800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr19:37472200-37485800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:37472200-37487000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37472200-37487400	Weak transcription	Brain Angular Gyrus	brain
6	chr19:37476800-37489400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37479200-37489000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:37479800-37489000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:37480200-37486400	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:37480400-37488800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:37480400-37489000	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr19:37480400-37489000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
13	chr19:37480400-37489000	ZNF genes & repeats	Liver	Liver
14	chr19:37481400-37489000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:37481600-37488600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:37481800-37488800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
17	chr19:37481800-37489400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr19:37482200-37486400	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr19:37482200-37486400	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr19:37482600-37488800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37482600-37489000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:37482800-37487200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:37482800-37487400	Weak transcription	HSMM	muscle
24	chr19:37483000-37485800	Weak transcription	Fetal Muscle Leg	muscle
25	chr19:37483000-37486000	Weak transcription	Pancreas	Pancrea
26	chr19:37483200-37487800	Weak transcription	Gastric	stomach
27	chr19:37483600-37487200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:37483800-37486200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:37483800-37487000	Weak transcription	Osteobl	bone
30	chr19:37483800-37487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:37483800-37487600	Weak transcription	Right Ventricle	heart
32	chr19:37484000-37486200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:37484000-37487000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:37484000-37487400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:37484000-37488000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:37484200-37487200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:37484200-37487200	Weak transcription	Fetal Brain Male	brain
38	chr19:37484200-37487400	Weak transcription	Fetal Kidney	kidney
39	chr19:37484400-37486000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr19:37484400-37487200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:37484400-37487200	Weak transcription	Brain Anterior Caudate	brain
42	chr19:37484400-37487400	Weak transcription	Brain Substantia Nigra	brain
43	chr19:37484400-37487600	Weak transcription	HSMMtube	muscle
44	chr19:37484400-37490600	Weak transcription	Stomach Mucosa	stomach
45	chr19:37484600-37487200	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:37484600-37487400	Weak transcription	Fetal Heart	heart
47	chr19:37484600-37487800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:37484800-37487600	Weak transcription	Psoas Muscle	Psoas
49	chr19:37485400-37486200	Weak transcription	Dnd41	blood
50	chr19:37485400-37487800	Strong transcription	Fetal Lung	lung

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